Distal myopathy

Distal myopathy
Other namesDistal muscular dystrophy
Red depicts the preferentially affected areas in distal myopathy.
SpecialtyNeurology, neuromuscular medicine
SymptomsWeakness of hands and/or feet
ComplicationsCardiomyopathy
Usual onsetVariable
DurationLifetime
TypesClassic, myofibrillar myopathy, other
CausesGenetic mutation of various genes
Diagnostic methodGenetic testing, muscle biopsy
FrequencyRare

Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin.[1]

  1. ^ Murakami N, Sakuta R, Takahashi E, et al. (December 2005). "Early onset distal muscular dystrophy with normal dysferlin expression". Brain Dev. 27 (8): 589–91. doi:10.1016/j.braindev.2005.02.002. PMID 16310593. S2CID 28957231.